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Items: 44

1.

Friedreich ataxia- pathogenesis and implications for therapies.

Delatycki MB, Bidichandani SI.

Neurobiol Dis. 2019 Dec;132:104606. doi: 10.1016/j.nbd.2019.104606. Epub 2019 Sep 5. Review.

2.

Friedreich Ataxia.

Bidichandani SI, Delatycki MB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
1998 Dec 18 [updated 2017 Jun 1].

3.

Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.

Chutake YK, Lam CC, Costello WN, Anderson MP, Bidichandani SI.

Nucleic Acids Res. 2016 Jun 20;44(11):5095-104. doi: 10.1093/nar/gkw107. Epub 2016 Feb 20.

4.

FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.

Chutake YK, Costello WN, Lam CC, Parikh AC, Hughes TT, Michalopulos MG, Pook MA, Bidichandani SI.

PLoS One. 2015 Sep 22;10(9):e0138437. doi: 10.1371/journal.pone.0138437. eCollection 2015.

5.

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.

Chutake YK, Lam C, Costello WN, Anderson M, Bidichandani SI.

Ann Neurol. 2014 Oct;76(4):522-8. doi: 10.1002/ana.24249. Epub 2014 Aug 30.

6.

Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.

Chutake YK, Costello WN, Lam C, Bidichandani SI.

J Biol Chem. 2014 May 30;289(22):15194-202. doi: 10.1074/jbc.M114.566414. Epub 2014 Apr 15.

7.

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.

Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, Pook MA, Bidichandani SI.

PLoS One. 2012;7(10):e47085. doi: 10.1371/journal.pone.0047085. Epub 2012 Oct 11.

8.

Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells.

Rindler PM, Bidichandani SI.

Nucleic Acids Res. 2011 Jan;39(2):526-35. doi: 10.1093/nar/gkq788. Epub 2010 Sep 14.

9.

Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.

Rasmussen A, Alonso E, Ochoa A, De Biase I, Familiar I, Yescas P, Sosa AL, Rodríguez Y, Chávez M, López-López M, Bidichandani SI.

BMC Med Genet. 2010 Jan 12;11:4. doi: 10.1186/1471-2350-11-4.

10.

Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.

De Biase I, Chutake YK, Rindler PM, Bidichandani SI.

PLoS One. 2009 Nov 19;4(11):e7914. doi: 10.1371/journal.pone.0007914.

11.

E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence.

Bourn RL, Rindler PM, Pollard LM, Bidichandani SI.

Mutat Res. 2009 Feb 10;661(1-2):71-7. doi: 10.1016/j.mrfmmm.2008.11.003. Epub 2008 Nov 13.

12.

Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence.

Pollard LM, Bourn RL, Bidichandani SI.

Nucleic Acids Res. 2008 Feb;36(2):489-500. Epub 2007 Nov 27.

13.

Acidic proline-rich protein Db and caries in young children.

Zakhary GM, Clark RM, Bidichandani SI, Owen WL, Slayton RL, Levine M.

J Dent Res. 2007 Dec;86(12):1176-80.

PMID:
18037651
14.

Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template.

Pollard LM, Chutake YK, Rindler PM, Bidichandani SI.

Nucleic Acids Res. 2007;35(20):6884-94. Epub 2007 Oct 11.

15.

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.

De Biase I, Rasmussen A, Monticelli A, Al-Mahdawi S, Pook M, Cocozza S, Bidichandani SI.

Genomics. 2007 Jul;90(1):1-5. Epub 2007 May 10.

16.

Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.

Rasmussen A, De Biase I, Fragoso-Benítez M, Macías-Flores MA, Yescas P, Ochoa A, Ashizawa T, Alonso ME, Bidichandani SI.

Ann Neurol. 2007 Jun;61(6):607-10.

PMID:
17474109
17.

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.

Alonso E, Martínez-Ruano L, De Biase I, Mader C, Ochoa A, Yescas P, Gutiérrez R, White M, Ruano L, Fragoso-Benítez M, Ashizawa T, Bidichandani SI, Rasmussen A.

Mov Disord. 2007 May 15;22(7):1050-3.

PMID:
17427938
18.

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

De Biase I, Rasmussen A, Endres D, Al-Mahdawi S, Monticelli A, Cocozza S, Pook M, Bidichandani SI.

Ann Neurol. 2007 Jan;61(1):55-60.

PMID:
17262846
19.

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.

M Rindler P, Clark RM, Pollard LM, De Biase I, Bidichandani SI.

Nucleic Acids Res. 2006;34(21):6352-61. Epub 2006 Nov 16.

20.

Clinical heterogeneity of recessive ataxia in the Mexican population.

Rasmussen A, Gómez M, Alonso E, Bidichandani SI.

J Neurol Neurosurg Psychiatry. 2006 Dec;77(12):1370-2.

21.

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

Clark RM, De Biase I, Malykhina AP, Al-Mahdawi S, Pook M, Bidichandani SI.

Hum Genet. 2007 Jan;120(5):633-40. Epub 2006 Sep 21.

PMID:
17024371
22.

Expansion of GAA trinucleotide repeats in mammals.

Clark RM, Bhaskar SS, Miyahara M, Dalgliesh GL, Bidichandani SI.

Genomics. 2006 Jan;87(1):57-67. Epub 2005 Nov 28.

23.

Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.

Sharma R, De Biase I, Gómez M, Delatycki MB, Ashizawa T, Bidichandani SI.

Ann Neurol. 2004 Dec;56(6):898-901.

PMID:
15562408
24.

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.

Pollard LM, Sharma R, Gómez M, Shah S, Delatycki MB, Pianese L, Monticelli A, Keats BJ, Bidichandani SI.

Nucleic Acids Res. 2004 Nov 8;32(19):5962-71. Print 2004.

25.

Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population.

Gómez M, Clark RM, Nath SK, Bhatti S, Sharma R, Alonso E, Rasmussen A, Bidichandani SI.

Genomics. 2004 Nov;84(5):779-84.

PMID:
15475256
26.

Analysis of unstable triplet repeats using small-pool polymerase chain reaction.

Gomes-Pereira M, Bidichandani SI, Monckton DG.

Methods Mol Biol. 2004;277:61-76.

PMID:
15201449
27.

What Mendel did not discover: exceptions in Mendelian genetics and their role in inherited human disease.

Hern LM, Bidichandani SI.

J Okla State Med Assoc. 2004 Jan;97(1):12-7.

PMID:
14998061
28.

Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH.

Potaman VN, Oussatcheva EA, Lyubchenko YL, Shlyakhtenko LS, Bidichandani SI, Ashizawa T, Sinden RR.

Nucleic Acids Res. 2004 Feb 20;32(3):1224-31. Print 2004.

29.

Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.

Clark RM, Dalgliesh GL, Endres D, Gomez M, Taylor J, Bidichandani SI.

Genomics. 2004 Mar;83(3):373-83.

PMID:
14962663
30.

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.

Sharma R, Bhatti S, Gomez M, Clark RM, Murray C, Ashizawa T, Bidichandani SI.

Hum Mol Genet. 2002 Sep 1;11(18):2175-87.

PMID:
12189170
31.

Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene.

Hai M, Bidichandani SI, Hogan ME, Patel PI.

Antisense Nucleic Acid Drug Dev. 2001 Aug;11(4):233-46.

PMID:
11572600
32.

Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.

Hai M, Bidichandani SI, Patel PI.

J Neurosci Res. 2001 Sep 15;65(6):508-19.

PMID:
11550219
33.

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM.

Arch Neurol. 2000 Feb;57(2):246-51.

PMID:
10681084
34.
35.
36.

A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.

Machkhas H, Bidichandani SI, Patel PI, Harati Y.

Muscle Nerve. 1998 Mar;21(3):390-3.

PMID:
9486868
37.

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

Bidichandani SI, Ashizawa T, Patel PI.

Am J Hum Genet. 1997 May;60(5):1251-6. No abstract available.

38.

Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.

Yang SP, Bidichandani SI, Figuera LE, Juyal RC, Saxon PJ, Baldini A, Patel PI.

Am J Hum Genet. 1997 May;60(5):1184-93.

39.

Frataxin fracas.

Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M.

Nat Genet. 1997 Apr;15(4):337-8. No abstract available.

PMID:
9090376
40.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.

Science. 1996 Mar 8;271(5254):1423-7.

PMID:
8596916
41.

Circulating human factor IX produced in keratin-promoter transgenic mice: a feasibility study for gene therapy of haemophilia B.

Alexander MY, Bidichandani SI, Cousins FM, Robinson CJ, Duffie E, Akhurst RJ.

Hum Mol Genet. 1995 Jun;4(6):993-9. Erratum in: Hum Mol Genet 1996 Aug;5(8):1206.

PMID:
7544665
42.

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.

Bidichandani SI, Lanyon WG, Shiach CR, Lowe GD, Connor JM.

Hum Genet. 1995 May;95(5):531-8.

PMID:
7759074
43.
44.

A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene.

Bidichandani SI, Shiach CR, Lanyon WG, Connor JM.

Hum Mol Genet. 1994 Apr;3(4):651-3. No abstract available.

PMID:
8069313

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